H127D (p.His127Asp) variant of PKLR (Pyruvate kinase PKLR)
H127D (p.His127Asp) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
H127D (p.His127Asp) variant details
- p.His127Asp
- rs1572057427
- ClinGen CA342755926
- ClinVar RCV001002644
- Ensembl rs1572057427
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.85
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available